Associated Papers
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Alecu JE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
Ma Y et al.
Gene, 2025
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Kojima F et al.
Neurogenetics, 2024
The Human Glyoxalase Gene Family in Health and Disease.
Farrera DO et al.
Chemical Research in Toxicology, 2022
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I et al.
Frontiers in Genetics, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M et al.
Brain : a Journal of Neurology, 2021
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh SG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Select a paper to view details